MCID: MNT255
MIFTS: 17

Mental Retardation and Psoriasis

Categories: Eye diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation and Psoriasis

MalaCards integrated aliases for Mental Retardation and Psoriasis:

Name: Mental Retardation and Psoriasis 56 29
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome 58
Tranebjaerg Svejgaard Syndrome 71
Tranebjaerg-Svejgaard Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-seizures-psoriasis syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: late childhood;

OMIM:

56
Inheritance:
x-linked


HPO:

31
mental retardation and psoriasis:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

OMIM 56 309480
UMLS via Orphanet 72 C2931381
Orphanet 58 ORPHA3052
MedGen 41 C3275610
UMLS 71 C2931381

Summaries for Mental Retardation and Psoriasis

MalaCards based summary : Mental Retardation and Psoriasis, also known as x-linked intellectual disability-seizures-psoriasis syndrome, is related to tranebjaerg svejgaard syndrome, and has symptoms including seizures Affiliated tissues include eye, and related phenotypes are intellectual disability and seizures

More information from OMIM: 309480

Related Diseases for Mental Retardation and Psoriasis

Diseases related to Mental Retardation and Psoriasis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tranebjaerg svejgaard syndrome 12.9

Symptoms & Phenotypes for Mental Retardation and Psoriasis

Human phenotypes related to Mental Retardation and Psoriasis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
3 psoriasiform dermatitis 58 31 frequent (33%) Frequent (79-30%) HP:0003765
4 ichthyosis 58 Excluded (0%)
5 increased serum iduronate sulfatase activity 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Neuro:
seizures
mental retardation

Lab:
normal steroid sulfatase

Skin:
psoriasis

Clinical features from OMIM:

309480

UMLS symptoms related to Mental Retardation and Psoriasis:


seizures

Drugs & Therapeutics for Mental Retardation and Psoriasis

Search Clinical Trials , NIH Clinical Center for Mental Retardation and Psoriasis

Genetic Tests for Mental Retardation and Psoriasis

Genetic tests related to Mental Retardation and Psoriasis:

# Genetic test Affiliating Genes
1 Mental Retardation and Psoriasis 29

Anatomical Context for Mental Retardation and Psoriasis

MalaCards organs/tissues related to Mental Retardation and Psoriasis:

40
Eye

Publications for Mental Retardation and Psoriasis

Articles related to Mental Retardation and Psoriasis:

# Title Authors PMID Year
1
X-linked mental retardation associated with psoriasis: a new syndrome? 56
3177453 1988
2
Acquired acrodermatitis enteropathica: case report of an atypical presentation. 61
17518778 2007

Variations for Mental Retardation and Psoriasis

Expression for Mental Retardation and Psoriasis

Search GEO for disease gene expression data for Mental Retardation and Psoriasis.

Pathways for Mental Retardation and Psoriasis

GO Terms for Mental Retardation and Psoriasis

Sources for Mental Retardation and Psoriasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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